The DOI matches its Crossref record; 111 of the 111 references it cites were found in a registry or an index.
Molecular pathogenesis and clinical management of Fanconi anemia
Open accessAbstract
Fanconi anemia (FA) is a rare genetic disorder associated with a high frequency of hematological abnormalities and congenital anomalies. Based on multilateral efforts from basic scientists and clinicians, significant advances in our knowledge of FA have been made in recent years. Here we review the clinical features, the diagnostic criteria, and the current and future therapies of FA and describe the current understanding of the molecular basis of the disease.
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Citations
Cites
Interaction of the Fanconi Anemia Proteins and BRCA1 in a Common Pathway
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Self-citationRegulation of oxidative stress by ATM is required for self-renewal of haematopoietic stem cells
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“Such hypersensitivity may lead to decreased hematopoietic cellularity (stem cell loss in early development), similar to phenotypes observed in ATM-deficient or ligase IV–deficient (LIG4-deficient) mice (102, 103).”
Biallelic Inactivation of BRCA2 in Fanconi Anemia
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Self-citationThe promise of induced pluripotent stem cells in research and therapy
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Control of BRCA2 Cellular and Clinical Functions by a Nuclear Partner, PALB2
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Self-citationDisease-corrected haematopoietic progenitors from Fanconi anaemia induced pluripotent stem cells
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Biallelic mutations in PALB2 cause Fanconi anemia subtype FA-N and predispose to childhood cancer
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Cited by
Mechanisms of DNA damage, repair, and mutagenesis
Chatterjee, N., & Walker, G. C. (2017) · Environmental and Molecular Mutagenesis · doi:10.1002/em.22087 · Cited by 2,039
Targeting Aldehyde Dehydrogenase 2: New Therapeutic Opportunities
Chen, C.-H., Ferreira, J. C. B., Gross, E. R., & Mochly-Rosen, D. (2014) · Physiological Reviews · doi:10.1152/physrev.00017.2013 · Cited by 614
The Fanconi Anemia Pathway Maintains Genome Stability by Coordinating Replication and Transcription
Schwab, R. A., Nieminuszczy, J., Shah, F., Langton, J., Lopez Martinez, D., Liang, C.-C., Cohn, M. A., Gibbons, R. J., Deans, A. J., & Niedzwiedz, W. (2015) · Molecular Cell · doi:10.1016/j.molcel.2015.09.012 · Cited by 361
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Metadata
- Authors
- Kee, Y., & D’Andrea, A. D.
- Venue
- Journal of Clinical Investigation
- Published
- 2012-11-01
- Volume
- 122
- Issue
- 11
- Pages
- 3799-3806
- ISSN
- 0021-9738 (ISSN-L)
- OpenAlex
- W2108192712
- Cited by
- 289
- References
- 111
- FWCI
- 19.49
- Type
- journal article
- Language
- en
- Open access
- bronze
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